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New Java version, new database format, smaller data downloads, more ACMG categories, better reporting...
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@julesjacobsen julesjacobsen released this 29 Feb 14:00
· 29 commits to master since this release
14.0.0
ffb2da1
  • Minimum Java version is now Java 17
  • Update database format REQUIRES DATABASE VERSION 2406 - these are significantly smaller than the previous versions (~50-60% of previous size) See the GitHub discussions section for details.
  • Added new GeneBlacklistFilter #457
  • Add new ClinVar conflicting evidence counts in HTML output #535
  • Added PS1, PM1, PM5 categories to ACMG assignments
  • Altered reporting of InheritanceModeFilter to state that the number shown refers to variants rather than genes.
  • Updated gene constraints to use gnomad v4.0 data.
  • TSV genes, TSV variants and VCF outputs will only write to a single file where the possible modes of inheritances are now shown together rather than split across separate files.
  • Fix for issue #531 where the priorityScoreFilter and regulatoryFeatureFilter pass/fail counts were not displayed in the HTML.
  • Fix for issue #534 where variant frequency and/or pathogenicity annotations are missing in certain run configurations.
  • Fix for issue #541 where logging to /tmp/spring.log causes clashes in shared user environments.
  • TSV output column CLINVAR_ALLELE_ID has been changed to CLINVAR_VARIANT_ID to allow easier reference to ClinVar variants.

Full Changelog: 13.3.0...14.0.0

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